Mutagenetix > Incidental Mutations

Incidental Mutation 'R6088:Tgs1'

486078

Institutional Source

Beutler Lab

Gene Symbol

Tgs1

Ensembl Gene

ENSMUSG00000028233

Gene Name

trimethylguanosine synthase 1

Synonyms

Ncoa6ip, Pimt, D4Ertd800e

MMRRC Submission

044245-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6088 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3574875-3616619 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3595383 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 517 (N517K)

Ref Sequence

ENSEMBL: ENSMUSP00000054112 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052712]

Predicted Effect

probably benign
Transcript: ENSMUST00000052712
AA Change: N517K

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000054112
Gene: ENSMUSG00000028233
AA Change: N517K

Domain	Start	End	E-Value	Type
low complexity region	113	130	N/A	INTRINSIC
low complexity region	145	159	N/A	INTRINSIC
low complexity region	611	624	N/A	INTRINSIC
Pfam:Met_10	661	798	3.4e-8	PFAM
Pfam:UPF0020	667	761	4.7e-7	PFAM
Pfam:Methyltransf_18	682	819	3.7e-9	PFAM
Pfam:Methyltransf_31	683	811	4.2e-10	PFAM
Pfam:Methyltransf_15	683	837	9.1e-46	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129964

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130514

Meta Mutation Damage Score

0.0630

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.7%
20x: 92.9%

Validation Efficiency

98% (59/60)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation display complete lethality around implantation with embryonic growth arrest, impaired hatching from the zona pellucida, and increased apoptosis. Null MEFs display G2 arrest. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	G	T	18: 58,902,102	V360F	probably damaging	Het
Ankrd17	C	T	5: 90,253,688	E1605K	possibly damaging	Het
Arid4a	A	G	12: 71,022,236	D54G	probably damaging	Het
Baz2a	TCTCCTC	TCTC	10: 128,114,642		probably benign	Het
Card6	A	T	15: 5,105,019	V234E	possibly damaging	Het
Cd1d1	G	T	3: 86,998,702	Q89K	probably benign	Het
Ciita	G	A	16: 10,511,931	R693K	probably damaging	Het
Cox7a2l	G	T	17: 83,503,972	L77I	probably benign	Het
Crybg2	A	T	4: 134,075,790		probably null	Het
Cts8	T	C	13: 61,253,966	N39S	probably benign	Het
Def8	G	T	8: 123,460,048	E456*	probably null	Het
Dld	A	G	12: 31,340,989	F153L	probably benign	Het
Elf1	C	T	14: 79,567,261	T122I	probably benign	Het
Emilin2	T	C	17: 71,255,124	N961S	probably benign	Het
Esp24	A	G	17: 39,040,010	I34V	probably benign	Het
Fam129b	T	C	2: 32,923,123	V540A	probably damaging	Het
Fam184b	C	A	5: 45,584,012	K292N	probably damaging	Het
Gabrg3	T	A	7: 56,985,078	N119I	probably damaging	Het
Gucy1b1	T	C	3: 82,034,880	H524R	probably damaging	Het
Kcp	A	T	6: 29,502,632	S205T	probably benign	Het
Klb	C	T	5: 65,349,013	T201M	probably benign	Het
Lamp3	A	T	16: 19,673,398	F365L	probably damaging	Het
Mad1l1	T	A	5: 140,193,963	H390L	probably benign	Het
Mlxipl	T	C	5: 135,134,030	Y711H	possibly damaging	Het
Myo5b	T	A	18: 74,720,898	L1196Q	possibly damaging	Het
Ndufb8	A	G	19: 44,555,025	S70P	probably benign	Het
Neb	T	C	2: 52,209,342	D4832G	probably damaging	Het
Nr5a1	T	C	2: 38,701,995	D322G	probably benign	Het
Olfr396-ps1	A	T	11: 73,928,823	T273S	probably benign	Het
Olfr988	T	A	2: 85,353,354	S191C	probably damaging	Het
Oscar	G	A	7: 3,611,312	P143S	probably benign	Het
Oxa1l	T	A	14: 54,367,694		probably null	Het
Pafah2	A	G	4: 134,413,381	I221V	probably benign	Het
Pibf1	T	A	14: 99,179,358	F456I	probably benign	Het
Pla2g4d	C	T	2: 120,270,006	G615D	probably damaging	Het
Plekhg2	C	T	7: 28,361,013	V964I	probably benign	Het
Ppip5k1	C	A	2: 121,337,463	V770L	probably benign	Het
Ppl	A	T	16: 5,104,988	L213Q	possibly damaging	Het
Ptprf	G	A	4: 118,210,755	T1785I	possibly damaging	Het
Pycr2	G	A	1: 180,906,236	G131E	probably damaging	Het
Rbpj	C	T	5: 53,651,368		probably null	Het
Rcc1	G	T	4: 132,332,842	D430E	probably benign	Het
Rhbdf1	A	G	11: 32,212,007	V525A	possibly damaging	Het
Samd7	G	A	3: 30,756,483	M216I	probably benign	Het
Ska3	A	T	14: 57,816,694	D266E	probably benign	Het
Slc1a7	G	A	4: 108,012,444	V569M	probably damaging	Het
Slc26a1	C	T	5: 108,674,006	E6K	possibly damaging	Het
Slc4a4	T	A	5: 89,197,704	V741E	probably benign	Het
St6galnac3	C	T	3: 153,206,715	G164S	probably damaging	Het
Tns4	A	G	11: 99,073,720	S522P	probably damaging	Het
Trpm1	A	T	7: 64,267,976	M355L	probably damaging	Het
Trpm8	G	A	1: 88,306,678		probably benign	Het
Uhrf1bp1	G	A	17: 27,884,605		probably null	Het
V1ra8	T	C	6: 90,203,100	F95S	probably damaging	Het
Zfp521	A	C	18: 13,846,109	S416A	possibly damaging	Het
Zfp574	T	A	7: 25,080,339	V262E	probably benign	Het
Zfp740	T	A	15: 102,208,808	I77N	probably damaging	Het
Zscan18	A	T	7: 12,775,198		probably benign	Het

Other mutations in Tgs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01063:Tgs1	APN	4	3591292	missense	possibly damaging	0.93
IGL01154:Tgs1	APN	4	3585473	nonsense	probably null
IGL01554:Tgs1	APN	4	3593632	missense	probably null	0.68
IGL01613:Tgs1	APN	4	3585183	missense	possibly damaging	0.92
IGL02117:Tgs1	APN	4	3585836	missense	probably damaging	1.00
IGL02259:Tgs1	APN	4	3604743	missense	probably damaging	0.96
IGL02697:Tgs1	APN	4	3585564	missense	probably benign	0.01
IGL02814:Tgs1	APN	4	3585719	missense	probably damaging	1.00
IGL02962:Tgs1	APN	4	3586181	missense	probably benign	0.04
IGL03223:Tgs1	APN	4	3591322	splice site	probably benign
IGL03340:Tgs1	APN	4	3604813	missense	probably benign	0.44
K2124:Tgs1	UTSW	4	3595547	missense	probably benign	0.00
R0189:Tgs1	UTSW	4	3593620	missense	probably benign	0.08
R0708:Tgs1	UTSW	4	3586152	missense	probably benign	0.07
R1029:Tgs1	UTSW	4	3593471	missense	probably damaging	0.98
R1446:Tgs1	UTSW	4	3604848	missense	probably damaging	1.00
R1623:Tgs1	UTSW	4	3585964	missense	probably benign
R1711:Tgs1	UTSW	4	3598658	missense	probably damaging	1.00
R1889:Tgs1	UTSW	4	3614928	missense	probably benign	0.31
R2911:Tgs1	UTSW	4	3585616	missense	probably benign	0.00
R3695:Tgs1	UTSW	4	3604949	intron	probably null
R4615:Tgs1	UTSW	4	3585156	missense	probably damaging	1.00
R5460:Tgs1	UTSW	4	3586170	missense	probably benign
R6442:Tgs1	UTSW	4	3604760	nonsense	probably null
R7542:Tgs1	UTSW	4	3595439	missense	probably benign	0.01
R7894:Tgs1	UTSW	4	3598652	missense	probably benign	0.10
R7977:Tgs1	UTSW	4	3598652	missense	probably benign	0.10
R7996:Tgs1	UTSW	4	3605842	missense	probably damaging	1.00
X0023:Tgs1	UTSW	4	3585912	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TGCTCCCCTAAATTCCAGATAGC -3'
(R):5'- GCTACTAAGGAGCCTACTTCACTC -3'

Sequencing Primer
(F):5'- CCAGATAGCCCATAATTGTAGCTTG -3'
(R):5'- TCTGCTTCAAGTTCAGTGGC -3'

Posted On

2017-08-16